Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MGZ Medical Genetics Center | RCV002290100 | SCV002581803 | likely pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 2022-08-26 | criteria provided, single submitter | clinical testing |